Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:advanced sleep phase syndrome 2
go back to main search page
Accession:DOID:0110012 term browser browse the term
Definition:An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the CSNK1D gene on chromosome 17q25. (DO)
Synonyms:exact_synonym: FASPS2;   familial advanced sleep phase syndrome 2
 primary_id: OMIM:615224
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
advanced sleep phase syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csnk1d casein kinase 1, delta ISO ClinVar Annotator: match by OMIM:615224 OMIM
ClinVar
PMID:15800623, PMID:23636092 NCBI chr10:110,147,786...110,182,413
Ensembl chr10:110,148,600...110,182,408
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Occupational Diseases 113
      advanced sleep phase syndrome 8
        advanced sleep phase syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            disease of mental health 6047
              sleep disorder 144
                Dyssomnias 123
                  advanced sleep phase syndrome 8
                    advanced sleep phase syndrome 2 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.